ClinGen Allele Registry
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Canonical Allele Identifier:
PA658662077
Gene: CACNA1S
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000559232
RCV002530229
RCV003419988
RCV003999454
ClinVar Variation:
473989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Val1222Ile
CA082696
NM_000069.3:c.3664G>A